CACNA1C and Brugada syndrome: Intriguingly, the Brugada syndrome A39V Cav1.2 mutation, when encoded in a long splicing isoform (exon 1a-containing cardiac type), was shown to function as a loss-of-function mutation with impaired membrane trafficking [48]; when encoded in a short splicing isoform (exon 1-containing neuronal type), this change possibly functions as a gain-of-function mutation by modulating CDI [54].